ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2909A>G (p.Tyr970Cys)

gnomAD frequency: 0.00001  dbSNP: rs1225312452
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788944 SCV000928244 uncertain significance not provided 2019-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535796 SCV003259734 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-05-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 636967). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CARD11 protein function. This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 970 of the CARD11 protein (p.Tyr970Cys).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.